Ehlers-Danlos syndrome (EDS) is a genetic group of connective tissue disorders. Connective tissue is a type of tissue that holds together and supports various tissues in the body. In Ehlers-Danlos syndrome, the skin, joints, blood vessels and other organs can be affected because connective tissue is not strong and flexible. This condition is usually caused by a genetic mutation. Diagnosis of Ehlers-Danlos syndrome is based on genetic testing and clinical assessments. Treatment is usually symptomatic and may include physical therapy, pain management, joint stabilization and other supportive measures.
This disease is associated with a genetic predisposition, so family history can play an important role. However, gene mutations can also occur spontaneously. Treatment is usually aimed at alleviating symptoms and improving quality of life.
What are the symptoms of Ehlers-Danlos syndrome?
Ehlers-Danlos syndrome (EDS) is characterized by a number of different signs and symptoms. While each subtype has its own characteristics, in general, common signs of EDS include the following:
- The skin may be excessively supple and have a softer texture than normal.
- Joint hypereslatability, i.e. joints showing more flexibility than normal, is a symptom of EDS.
- Veins under the skin are often weak, so people may bruise easily and minor injuries may last longer.
- The pain threshold may be low, which can make pain more easily felt.
- Problems with the eyes are common, especially myopia, astigmatism and retinal problems.
- Connective tissues, ligaments and tendons in the body may be weak, which can lead to joint stability problems.
- In some types of EDS, internal organs can also be affected, for example, bowel problems, heart valve problems and other internal organ problems can occur.
- In the vascular type of EDS, blood vessels can be weak and serious vascular problems can occur, especially artery and organ ruptures.
Symptoms can vary from person to person and vary in severity. The symptoms of EDS usually become more pronounced with age.
What causes Ehlers-Danlos syndrome?
Ehlers-Danlos syndrome (EDS) is caused by a genetic disorder. Genetic mutations or gene changes are at the root of EDS. These genetic mutations cause abnormalities in proteins involved in connective tissue synthesis. Connective tissue is a type of tissue that holds together and supports various tissues in the body.
When connective tissue is weak or less elastic than normal, the skin, joints, blood vessels and other organs can change shape more easily and become more vulnerable. This triggers the symptoms of Ehlers-Danlos syndrome.
Different subtypes of EDS are linked to different genetic mutations. For example, the EDS hypereslatability type (EDS hypereslatability type) is usually associated with mutations in genes involved in collagen production. Other subtypes may also have genetic alterations, usually affecting collagen or other connective tissue proteins.
These genetic mutations usually run in families, but can also occur spontaneously. This means that these genetic changes can occur in a person with no family history of Ehlers-Danlos syndrome. In addition to specific genetic factors, environmental factors are also thought to influence the symptoms of EDS, but more research is needed.
What are the Types of Ehlers-Danlos Syndrome?
Ehlers-Danlos syndrome (EDS) is a group of genetic connective tissue disorders that are divided into several subtypes. Each subtype has its own symptoms and the systems it affects. In 2017, the International Consortium on Ehlers-Danlos Syndromes and Hypermobile Spectrum Disorders (The International Consortium on Ehlers-Danlos Syndromes and Hypermobile Spectrum Disorders) updated the definition of 13 subtypes of EDS. These subtypes are as follows:
Classic Type EDS: The skin is extremely elastic, mildly atrophic (thin) scars and hypereslatability in the joints are observed.
Hypereslatability Type EDS: It is characterized by hypereslatability of the joints, soft skin and easy bruising. It is considered the most common type.
Vascular Type EDS: There is a risk of ruptures in arteries and organs due to problems in the vascular system. It can be life-threatening.
Kyphoscoliotic Type EDS: Severe joint hypereslatability, scoliosis (curvature of the spine), muscle hypotonia (weakness) and prominent sclera (whites of the eyes) may be present.
Arthrochalasia Type EDS: Includes hypereslatability of large joints, congenital hip dislocation and mild skin manifestations.
Dermatosparaxis Type EDS: Includes excessively soft and loose skin, enlarged skin, and skin fragility.
Periodontitis Type EDS: Characterized by gum problems, tooth loss and gum retraction.
Spondylocalysis Type EDS: Usually includes spondylolisthesis and spondylocamptosis, i.e. slipping of the vertebrae and deformities.
Musculocontractural Type EDS: Includes muscle contractures, facial anomalies, skin fragility and problems in other systems.
Myopathic Type EDS: Includes muscle weakness, enlarged skin, joint hypereslatability.
EDS Associated with Periodic Fever Syndrome and Hyperimmunoglobulinemia D: Includes periodic fever attacks, hyperimmunoglobulinemia D and skin manifestations.
Brittle Cornea Syndrome (BCS): A syndrome that causes corneal fragility and problems in other systems.
Spheroidic Cell Type EDS: Includes platelet problems and symptoms in the skin and other systems.
Ehlers-Danlos Syndrome Diagnostic Methods
The diagnosis of Ehlers-Danlos syndrome (EDS) is usually made by a genetic specialist and involves a number of methods. The process begins with a clinical examination that assesses the patient's symptoms. Genetic testing is used to identify genetic mutations that specifically affect collagen or connective tissue proteins.
Hypereslatability tests, eye examinations, imaging studies and blood tests may also be used to assess joint flexibility. The diagnostic process usually requires a multidisciplinary approach and treatment is usually focused on symptoms. Consulting a genetic specialist for the diagnosis and management of Ehlers-Danlos syndrome can help to establish an accurate diagnosis and effective treatment plan.
How is Ehlers-Danlos syndrome treated?
Ehlers-Danlos syndrome (EDS) treatment is usually aimed at relieving symptoms and improving quality of life. However, the specific treatment plan may vary depending on the subtype of EDS, the severity of its symptoms and the individual's general health. Here are the methods commonly used to treat EDS:
Physical Therapy and Exercise
Physical therapy can improve the patient's mobility by focusing on muscle strengthening and joint support. Appropriate exercise programs can help control joint hypereslatability and improve muscle stability.
Pain Management
Pain is often a symptom of EDS. Pain management can be achieved with non-steroidal anti-inflammatory drugs (NSAIDs), analgesics or other medications. Physical therapy and rehabilitation can also contribute to pain management.
Joint Supports
Especially in the EDS type of hypereslatability, joint stability can be increased by using joint supports, splints or bandages.
Genetic Counseling
Because EDS has a genetic origin, genetic counseling can help the individual or their family learn about their condition and plan for the next generation.
Eye Examination and Care
Regular eye examinations are important for eye problems. Some types of EDS may require special measures to maintain eye health.
Dental Care
Gum problems may be common in types such as Periodontitis Type EDS. Regular dental examinations and proper care are therefore important.
Diet and Nutrition
A healthy diet can support connective tissue health. Collagen supplements or special dietary adjustments may be considered, especially in some types of EDS.
Surgical Intervention
In some cases, surgery may be required to treat serious vascular problems, especially in the EDS vascular type.